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Atp7aMo-br
Spontaneous Allele Detail
Nomenclature
Symbol: Atp7aMo-br
Name: ATPase, Cu++ transporting, alpha polypeptide; brindled
MGI ID: MGI:1856098
Synonyms: Br, Mobr
Gene: Atp7a  Location: ChrX:106027276-106124926 bp, + strand  Genetic Position: ChrX, 47.36 cM
Atp7aMo-br/+

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL
Mutation
description
Allele Type:    Spontaneous
Mutations:    Intragenic deletion, Single point mutation
 
Mutation details
Inheritance:    Semidominant
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 4 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Atp7a Mutation:  65 strains or lines available
Notes
Heterozygous females are very similar to Atp7aMo/+ females in appearance but have normal viability. They have curly vibrissae, but the coat is not noticeably waved. Hemizygous males are almost devoid of pigment except in the eyes and ears. The vibrissae are strongly curled, and the coat is wavy. The abnormalities of hair structure have been described by Gr\"uneberg (J:5137). Males usually die when 2 weeks old, but a few have lived and been fertile. They have a behavioral abnormality consisting of a slight tremor, uncoordinated gait, and clasping of the hindfeet when held up by the tail (J:249, J:164). Females homozygous for Atp7aMo-br, and also heterozygous Atp7aMo-br/Atp7aMo and Atp7aMo-br/Atp7aMo-to females are identical in phenotype to hemizygous Atp7aMo-br males and die at the same age (J:164, J:12963). Histological examination of the brain of brindled males shows widespread neuronal degeneration in the cerebral cortex and thalamic nuclei and scattered degeneration in the cerebellum (J:6113). Heterozygous females have been shown to have neurochemical abnormalities as well (J:2026). In contrast to mice bearing other Atp7a alleles, brindled mice have no aortic lesions (J:12963) and no defect in crosslinking of collagen and elastin. Brindled males do, however, have a 30 to 40% reduction in lysyl oxidase activity in skin (J:5777). They have reduced synthesis of noradrenalin by dopamine--hydroxylase in the brain and peripheral nervous system (J:5323), and decreased activity of cytochrome C oxidase and superoxide dismutase (J:5830). These enzymes are all copper-dependent or copper-containing, and their reduced activity may be due to defective copper transport in cells of all affected tissues (J:5956, J:617, J:5747, J:12937). Brindled males have defective placental transport and defective intestinal absorption of copper. Copper concentration is high in gut mucosa, kidney, and testis and low in liver, brain, plasma, and most other organs (J:6204, J:6206). Concentration of the copper-binding protein metallothionein in various tissues is correlated with the concentration of copper (J:7370); however, hepatic metallothionein is inducible at normal levels in mutant neonates (J:24041). Parenteral injection of copper at 7 to 10 days of age has a striking therapeutic effect; it prevents tremor and early death, allows normal pigmentation, improves growth, produces normal concentrations of copper in organs previously deficient (except liver), produces normal activity of some copper-dependent enzymes (J:6205, J:7521), and prevents neuronal degeneration (J:6544). In heterozygotes with tabby (Eda), Atp7aMo-br resembles Atp7aMo-blo, and thus appears to act on coat color through an effect in hair follicles (J:5238).

References
Original:  J:13041 Fraser AS, et al., Mottled, a sex-modified lethal in the house mouse. J Genet. 1953;51:217-221
All:  50 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory